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rs121908750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs121908750(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509140
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908750
ebirs121908750
HLIrs121908750
Exacrs121908750
Varsomers121908750
Maprs121908750
PheGenIrs121908750
hapmaprs121908750
1000 genomesrs121908750
hgdprs121908750
ensemblrs121908750
gopubmedrs121908750
geneviewrs121908750
scholarrs121908750
googlers121908750
pharmgkbrs121908750
gwascentralrs121908750
openSNPrs121908750
23andMers121908750
23andMe allrs121908750
SNP Nexus

SNPshotrs121908750
SNPdbers121908750
MSV3drs121908750
GWAS Ctlgrs121908750
Max Magnitude3
OMIM602421
Desc
Variant0079
Relatedalso
ClinVar
Risk rs121908750(A;A)
Alt rs121908750(A;A)
Reference rs121908750(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149194G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007603.3,